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Gene Discovery to Avoid Baby Disease, University of Western Australia Study


6/25/2013 7:46:37 AM

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One of the genes which causes a muscle disease so severe that newborn babies rarely survive beyond a few days has been discovered by an international team of scientists, coordinated by The University of Western Australia affiliate, the Western Australian Institute for Medical Research (WAIMR). WAIMR's Laboratory for Molecular Genetics, headed by UWA Winthrop Professor Nigel Laing and globally recognised for its research into an inherited condition known as nemaline myopathy, coordinated a worldwide research effort that led to the discovery of the gene KLHL40. The gene is now known to cause 20 per cent of cases within a particularly severe version of the disease.

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